Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
---|---|---|---|---|---|
Age | 15 | 4 | 34 | 7 | 5 |
Sex | m | m | f | f | f |
Country | Ukraine | Ukraine | Ukraine | Ukraine | Vietnam |
Phenotype | Severe | Mild | Moderate | Moderate | Mild |
Mimicking classic OI type | V | I | IV | IV | I |
OI history in the family | No | Yes | Yes | No | No |
Hyperplastic callus | Yes, extreme | Yes | Yes | No | Yes |
Interosseous membrane calcification | Yes | Yes | Yes (fibula-tibia) | No | No |
Radial head dislocation | Yes | Yes | Yes | No | Yes |
Metaphyseal radiodense band | NA | Yes | Yes | No | Yes |
Hearing loss | Yes, age 14 | No | No | No | No |
Dentinogenesis imperfecta | No, teeth brittle | No | No | No | |
Sclera hue | Grayish | Bluish | Bluish | Grayish | Bluish |
Number of fractures | 8 | 4 | 26 | 16 | 5 |
Number of fractures per year | 0.5 | 1 | 0.8 | 2.3 | 1 |
Time of the first fracture | 1.3 | 7 months | at birth | 3 months | 2 |
First fractured bone | Femur | Left femur | Elbow, femur | Scapula | Lower leg |
The most frequently fractured bone | Femur | Femur | Femur | Legs | Lower leg |
Pyramidal/bell-shaped chest | Yes, severe | No | Yes | Yes | No |
Scoliosis | Yes | No | Yes | Yes | No |
Upper limb long bone deformity | Yes, mild | Yes, mild | Yes | No | Yes, mild |
Lower limb long bone deformity | Yes | Yes, mild | Yes | Yes, mild | Yes, mild |
Mobility | Immobile, lying | Walking | Walking (did not walk at age 9–14) | Walking | Walking |
Height (Z score) | − 3.93 | 0.66 | − 2.70 | − 2.83 | − 1.22 |
Birthweight and length | 52/3450 | 51/2500 | 52/3300 | 50/2800 | NA/2800 |
Joint laxity | No | Yes | Yes | No | NA |